A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2665817

Internal ID9585236
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13368736..13369056hg38UCSC Ensembl
chr19:13479550..13479870hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6497219, essv6488440, essv6002828, essv5568405, essv6135514, essv5411985, essv5558515, essv6175584, essv6412766, essv5999682, essv6057985, essv6112754, essv5824393, essv6332346, essv6009787, essv6121136, essv6197388, essv6306924, essv5982706, essv5419435, essv6311583, essv6359508, essv5896802, essv6259980, essv6370968, essv6254080, essv5769651, essv5421330, essv5480874, essv5496687, essv5412648, essv5993361, essv6151306, essv5906913, essv6253787, essv5483181, essv6039633, essv6551993, essv6430333, essv6197424, essv6419410, essv5562577, essv6540837, essv6166386, essv5552002, essv6530628, essv5789612, essv6369990, essv5630115, essv5906029, essv5858126, essv6270969, essv6080934, essv5627787, essv5412561, essv5881914, essv5458049, essv5799518, essv6239008, essv6596673, essv6096569, essv5502512, essv6202306, essv6023075, essv6400382, essv5827229, essv6517184, essv5793973, essv5807383, essv6113997, essv6435883, essv5410536, essv5596689, essv6464281, essv6343429, essv5969444, essv5669071, essv6342833, essv6046397, essv5794869, essv5834782, essv6261865, essv5921769, essv6282863, essv5604423, essv5613819, essv6120205, essv5556773, essv5564046, essv5905485, essv5656053, essv6371518, essv6500806, essv5913176, essv6124146, essv6105220, essv5437493, essv6422977, essv5818323, essv5650852, essv5826273, essv5736379, essv6313433, essv5630714, essv5596608, essv6439004, essv6019245, essv6326271, essv5863663, essv5941809, essv6375134, essv6462241, essv5473499, essv5548431, essv6012617, essv5777879, essv5824500, essv6501282, essv5726791, essv5504765, essv6538070, essv6105602, essv6549758, essv5636247, essv5457311, essv6027381, essv6314579, essv6364498, essv5873110, essv6214321, essv5587081, essv6304123, essv6139376, essv6016075, essv6208771, essv5737323, essv5737995, essv6557342, essv5441720, essv6340744, essv5912498, essv6475048, essv6555757, essv5681060, essv6042904, essv5820130, essv6529912, essv6190034, essv6109934, essv5665559, essv5832925, essv6336023, essv5517545, essv5726610, essv5531291, essv5417153, essv6469209, essv6392928, essv5813136, essv6296600, essv5410869, essv5603290, essv5448489, essv5463400, essv6387292, essv5526073, essv5696303, essv6558899, essv5883123, essv6162775, essv5623704, essv5524481, essv6394903, essv6195663
SamplesHG00613, NA19012, NA19137, NA19207, NA18870, NA12489, NA19152, NA19445, HG00537, NA18861, NA18605, HG00536, NA18520, NA18595, NA19904, NA18530, NA18871, NA19404, NA18523, NA18975, HG00500, HG01083, NA19209, NA18501, NA19093, NA19401, NA19311, NA11918, NA19469, HG00707, NA18511, NA19455, NA19435, NA20296, NA11931, NA12813, NA19334, NA19331, NA18953, NA19451, NA18972, NA18517, HG01491, NA18608, NA19920, NA19461, NA19144, NA19210, NA19834, NA12776, NA18963, NA19257, NA19108, NA19701, NA18488, NA19236, NA19355, HG00699, NA18505, NA19472, NA18873, NA19776, NA18868, NA19463, NA19914, HG01148, NA18912, NA18967, NA19239, NA19390, NA11994, NA19068, NA19917, NA12155, NA18576, NA19443, NA19722, NA18990, NA18956, NA19440, NA19908, NA18959, NA18976, HG01136, NA19835, NA18916, NA19190, NA19213, HG00436, NA19360, NA19395, NA19153, NA07346, NA18537, NA18620, NA19129, NA18633, NA19703, NA19373, NA18486, NA18968, NA19102, NA18522, NA19238, NA18510, NA20344, NA19119, HG00560, NA18977, NA19098, NA19901, NA18504, NA18858, NA18942, NA19909, NA18988, HG00512, HG01070, HG00525, NA18562, NA19131, NA19159, NA19328, NA18910, NA18579, NA18974, NA19462, NA18945, NA18619, NA18987, NA18597, NA19376, HG01095, NA18599, NA18909, NA19201, NA20332, HG00650, NA18538, NA19403, HG00663, NA12156, NA19116, NA18971, NA19755, NA19818, NA18577, HG00654, NA18614, NA19452, NA11830, NA18944, NA18917, NA19399, NA19160, NA18499, NA18571, HG01108, NA19470, NA19171, NA19240, NA18532, NA18853, NA19204, NA18981, NA19350, HG00684, NA06994, NA18555, NA19200, NA19007, NA18519, NA18980, NA19439
Known GenesCACNA1A
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2665817
Sample Size1151
Observed Gain0
Observed Loss174
Observed Complex0

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